Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965040
rs121965040
OAT
0.720 GeneticVariation UNIPROT Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. 23076989

2013
dbSNP: rs121965040
rs121965040
OAT
0.720 GeneticVariation UNIPROT A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor. 7668253

1995
dbSNP: rs121965040
rs121965040
OAT
0.720 GeneticVariation UNIPROT Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V. 7887415

1995
dbSNP: rs121965040
rs121965040
OAT
0.720 GeneticVariation UNIPROT Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. 1737786

1992
dbSNP: rs121965040
rs121965040
OAT
0.720 GeneticVariation UNIPROT Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene. 1612597

1992
dbSNP: rs121965040
rs121965040
OAT
0.720 GeneticVariation BEFREE L402P was not present in 18 non-Finnish GA patients but R180T was found in an American GA patient. 2492100

1989
dbSNP: rs121965040
rs121965040
OAT
0.720 GeneticVariation UNIPROT Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy. 2793865

1989
dbSNP: rs121965040
rs121965040
OAT
0.720 GeneticVariation UNIPROT Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy. 3375240

1988
dbSNP: rs121965047
rs121965047
OAT
0.710 GeneticVariation BEFREE Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina. 30251682

2018
dbSNP: rs121965043
rs121965043
OAT
0.710 GeneticVariation UNIPROT Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. 23076989

2013
dbSNP: rs121965047
rs121965047
OAT
0.710 GeneticVariation UNIPROT Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. 23076989

2013
dbSNP: rs121965059
rs121965059
OAT
0.710 GeneticVariation UNIPROT Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. 23076989

2013
dbSNP: rs386833621
rs386833621
OAT
0.710 GeneticVariation UNIPROT Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. 23076989

2013
dbSNP: rs121965043
rs121965043
OAT
0.710 GeneticVariation BEFREE Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase. 11297489

2001
dbSNP: rs386833621
rs386833621
OAT
0.710 GeneticVariation BEFREE Two clinical subtypes of gyrate atrophy (GA) have been defined based on in vivo or in vitro evidence of response to vitamin B6 (pyridoxine), which is the cofactor of the enzyme ornithine aminotransferase (OAT) shown to be defective in GA. We identified the E318K mutation in the OAT gene, heterozygously in three patients and homozygously in one patient, all of whom were vitamin B6-responsive by previous in vivo and in vitro studies. 10617919

1999
dbSNP: rs121965043
rs121965043
OAT
0.710 GeneticVariation UNIPROT A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor. 7668253

1995
dbSNP: rs121965043
rs121965043
OAT
0.710 GeneticVariation UNIPROT Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V. 7887415

1995
dbSNP: rs121965047
rs121965047
OAT
0.710 GeneticVariation UNIPROT Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V. 7887415

1995
dbSNP: rs121965047
rs121965047
OAT
0.710 GeneticVariation UNIPROT A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor. 7668253

1995
dbSNP: rs121965059
rs121965059
OAT
0.710 GeneticVariation UNIPROT In extracts of fibroblasts from a second GA patient homozygous for A226V and from Chinese hamster ovary cells expressing an OAT-cDNA-containing A226V, we found that OAT activity increased from undetectable levels to approximately 10% of normal when the concentration of pyridoxal phosphate was increased from 50 to 600 microM. 7887415

1995
dbSNP: rs121965059
rs121965059
OAT
0.710 GeneticVariation UNIPROT A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor. 7668253

1995
dbSNP: rs121965059
rs121965059
OAT
0.710 GeneticVariation BEFREE In extracts of fibroblasts from a second GA patient homozygous for A226V and from Chinese hamster ovary cells expressing an OAT-cDNA-containing A226V, we found that OAT activity increased from undetectable levels to approximately 10% of normal when the concentration of pyridoxal phosphate was increased from 50 to 600 microM. 7887415

1995
dbSNP: rs386833621
rs386833621
OAT
0.710 GeneticVariation UNIPROT A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor. 7668253

1995
dbSNP: rs386833621
rs386833621
OAT
0.710 GeneticVariation UNIPROT Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V. 7887415

1995
dbSNP: rs121965043
rs121965043
OAT
0.710 GeneticVariation UNIPROT Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. 1737786

1992